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Congenital muscular dystrophy v3.57 | INPP5K | Arina Puzriakova Phenotypes for gene: INPP5K were changed from Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment to Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.43 | INPP5K | Louise Daugherty reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.24 | INPP5K | Rachael Mein reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: ; Publications: 28190459, 28190456; Phenotypes: Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy, Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.23 | INPP5K | Louise Daugherty Source NHS GMS was added to INPP5K. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.22 | INPP5K |
Louise Daugherty Source London South GLH was added to INPP5K. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Congenital muscular dystrophy | INPP5K | Ellen McDonagh classified INPP5K as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy | INPP5K | Ellen McDonagh added INPP5K to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy | INPP5K | Ellen McDonagh reviewed INPP5K |